Linked Data
gnomAD v4:
X-78123089-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123089G>T , CM000685.2:g.78123089G>T | GRCh38 |
| NC_000023.10:g.77378586G>T , CM000685.1:g.77378586G>T | GRCh37 |
| NC_000023.9:g.77265242G>T | NCBI36 |
| NG_008862.1:g.23921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.757-106G>T MANE Select | ENSP00000362413.4:n.757-106G>T | |
| ENST00000644362.1:c.673-106G>T | ENSP00000496140.1:n.673-106G>T | |
| ENST00000373316.4:c.757-106G>T | ENSP00000362413.4:n.757-106G>T | |
| ENST00000474281.1:n.163+88G>T | ||
| NM_000291.3:c.757-106G>T | NP_000282.1:n.757-106G>T | |
| NM_000291.4:c.757-106G>T MANE Select | NP_000282.1:n.757-106G>T |